Zobrazeno 1 - 10
of 263
pro vyhledávání: '"Margaret Rosenfeld"'
Autor:
Hanley Kingston, Adrienne M. Stilp, William Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling, John Barnard, Shannon Dugan-Perez, Patrick T. Ellinor, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Namrata Gupta, Kenneth Rice, Albert V. Smith, Michael C. Zody, Scott M. Blackman, Garry Cutting, Michael R. Knowles, Yi-Hui Zhou, Margaret Rosenfeld, Ronald L. Gibson, Michael Bamshad, Alison Fohner, Elizabeth E. Blue
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100117- (2022)
Summary: CFTR F508del (c.1521_1523delCTT, p.Phe508delPhe) is the most common pathogenic allele underlying cystic fibrosis (CF), and its frequency varies in a geographic cline across Europe. We hypothesized that genetic variation associated with this
Externí odkaz:
https://doaj.org/article/904422004e45433aa8eb9faa3da1427a
Autor:
Richard Anderson, Margaret Rosenfeld, Laura Elizabeth Ellington, Irene Najjingo, James W Stout, Stephanie A Farquhar, Aditya Vashistha, Bridget Nekesa, Zaituni Namiya, Agatha J Kruse
Publikováno v:
BMJ Open, Vol 11, Iss 7 (2021)
Objectives Mobile health tools have potential to improve the diagnosis and management of acute lower respiratory illnesses (ALRI), a leading cause of paediatric mortality worldwide. The objectives were to evaluate health workers’ perceptions of acc
Externí odkaz:
https://doaj.org/article/4bdb102dd4434e6f8704837059c8e366
Publikováno v:
Endocrinology, Diabetes & Metabolism, Vol 4, Iss 2, Pp n/a-n/a (2021)
Abstract Background Hyperglycaemia may contribute to failure to recover from pulmonary exacerbations in cystic fibrosis (CF). We aimed to evaluate the prevalence and mechanism of hyperglycaemia during and post‐exacerbations. Methods Nine paediatric
Externí odkaz:
https://doaj.org/article/6189651ff77e4cad98ab7f741c2fb022
Publikováno v:
BMC Pulmonary Medicine, Vol 17, Iss 1, Pp 1-9 (2017)
Abstract Background The role of air pollution in increasing susceptibility to respiratory tract infections in the cystic fibrosis (CF) population has not been well described. We recently demonstrated that chronic PM2.5 exposure is associated with an
Externí odkaz:
https://doaj.org/article/e88c4b7bf81b4049ab85c9fec04adf12
Seasonality of acquisition of respiratory bacterial pathogens in young children with cystic fibrosis
Publikováno v:
BMC Infectious Diseases, Vol 17, Iss 1, Pp 1-6 (2017)
Abstract Background Seasonal variations are often observed for respiratory tract infections; however, limited information is available regarding seasonal patterns of acquisition of common cystic fibrosis (CF)-related respiratory pathogens. We previou
Externí odkaz:
https://doaj.org/article/69501a44a18f418b9b3811f9c49d97af
Autor:
William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral‐facial‐digital syndrome type I (OFDSI). Over time, pathogenic variants in OFD1 were found to be associated with X‐linked intell
Externí odkaz:
https://doaj.org/article/05925ae70dfb4d988f4b54da6cd65b90
Autor:
Tamara D Simon, Christopher E Pope, Samuel R Browd, Jeffrey G Ojemann, Jay Riva-Cambrin, Nicole Mayer-Hamblett, Margaret Rosenfeld, Danielle M Zerr, Lucas Hoffman
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e83229 (2014)
Cerebrospinal fluid shunt infection can be recalcitrant. Recurrence is common despite appropriate therapy for the pathogens identified by culture. Improved diagnostic and therapeutic approaches are required, and culture-independent molecular approach
Externí odkaz:
https://doaj.org/article/eb3e3e5b99a040e487a22ff37f80f496
Autor:
Yi-Hui Zhou, Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit, Elizabeth E. Blue, Kati J. Buckingham, Joseph M. Collaco, Anna V. Faino, William W. Gordon, Kurt N. Hetrick, Hua Ling, Weifang Liu, Frankline M. Onchiri, Kymberleigh Pagel, Elizabeth W. Pugh, Karen S. Raraigh, Margaret Rosenfeld, Quan Sun, Jia Wen, Yun Li, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Scott M. Blackman, Garry R. Cutting, Ronald L. Gibson, Wanda K. O’Neal, Fred A. Wright, Michael R. Knowles
Publikováno v:
American Journal of Respiratory and Critical Care Medicine. 207:1324-1333
Autor:
Wallace B. Wee, Margaret W. Leigh, Stephanie D. Davis, Margaret Rosenfeld, Kelli M. Sullivan, Michael G. Sawras, Thomas W. Ferkol, Michael R. Knowles, Carlos Milla, Scott D. Sagel, Maimoona A. Zariwala, Eleanor Pullenayegum, Sharon D. Dell
Publikováno v:
Annals of the American Thoracic Society. 19(11)
Autor:
BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Thomas W. Ferkol, Scott D. Sagel, Sharon D. Dell, Carlos Milla, Adam J. Shapiro, Kelli M. Sullivan, Maimoona A. Zariwala, Jessica E. Pittman, Federico Mollica, Harm A. W. M. Tiddens, Mariette Kemner-van de Corput, Michael R. Knowles, Stephanie D. Davis, Margaret W. Leigh
Publikováno v:
Annals of the American Thoracic Society. 20:539-547
Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary clearance, recurrent respiratory infections, and progressive airway damage and obstructive lung disease. While the association of ciliary ultrastructure defect/genotype with se